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Holger Prokisch

Showing results (101-110 of 394) with videos related to

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Neuropediatrics|October 17, 2023
ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory DiseaseCharlotte Thiels, Thomas Lücke, Tobias Rothoeft, et al.
Proteomics|November 19, 2005
Proteome analysis of mitochondrial outer membrane from Neurospora crassaSimone Schmitt, Holger Prokisch, Tilman Schlunck, et al.
Mitochondrion|July 12, 2017
LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical studyMaja Hempel, Laura S Kremer, Konstantinos Tsiakas, et al.
Journal of Inherited Metabolic Disease|May 7, 2019
Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial diseaseMatias Wagner, Riccardo Berutti, Bettina Lorenz-Depiereux, et al.
Neurogenetics|March 24, 2015
MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathyFelix Distelmaier, Tobias B Haack, Claudia B Catarino, et al.
Molecular Biology of the Cell|December 12, 2003
Reconstituted TOM core complex and Tim9/Tim10 complex of mitochondria are sufficient for translocation of the ADP/ATP carrier across membranesAndreja Vasiljev, Uwe Ahting, Frank E Nargang, et al.
Nature Genetics|May 26, 2009
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathyDaniele Ghezzi, Paola Goffrini, Graziella Uziel, et al.
Neurogenetics|February 10, 2015
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalitiesFabian Baertling, Tobias B Haack, Richard J Rodenburg, et al.
Journal of Human Genetics|July 22, 2025
Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunctionKohta Nakamura, Yoshihito Kishita, Atsuko Imai-Okazaki, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 26, 2013
Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulationEva C Schulte, Malte C Claussen, Angela Jochim, et al.
Pageof 40

Showing results (101-110 of 394) with videos related to

Sort By:
Pageof 40
Neuropediatrics|October 17, 2023
ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory DiseaseCharlotte Thiels, Thomas Lücke, Tobias Rothoeft, et al.
Proteomics|November 19, 2005
Proteome analysis of mitochondrial outer membrane from Neurospora crassaSimone Schmitt, Holger Prokisch, Tilman Schlunck, et al.
Mitochondrion|July 12, 2017
LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical studyMaja Hempel, Laura S Kremer, Konstantinos Tsiakas, et al.
Journal of Inherited Metabolic Disease|May 7, 2019
Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial diseaseMatias Wagner, Riccardo Berutti, Bettina Lorenz-Depiereux, et al.
Neurogenetics|March 24, 2015
MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathyFelix Distelmaier, Tobias B Haack, Claudia B Catarino, et al.
Molecular Biology of the Cell|December 12, 2003
Reconstituted TOM core complex and Tim9/Tim10 complex of mitochondria are sufficient for translocation of the ADP/ATP carrier across membranesAndreja Vasiljev, Uwe Ahting, Frank E Nargang, et al.
Nature Genetics|May 26, 2009
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathyDaniele Ghezzi, Paola Goffrini, Graziella Uziel, et al.
Neurogenetics|February 10, 2015
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalitiesFabian Baertling, Tobias B Haack, Richard J Rodenburg, et al.
Journal of Human Genetics|July 22, 2025
Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunctionKohta Nakamura, Yoshihito Kishita, Atsuko Imai-Okazaki, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 26, 2013
Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulationEva C Schulte, Malte C Claussen, Angela Jochim, et al.
Pageof 40